Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene.
Segregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome (WS) and Hirschsprung disease (HRSD). Two of these families demonstrated parental consanguinity. On the basis of these families, autosomal recessive inheritance of the combination WS-HRSD has been postulated. However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations.
Badner
J A
JA
Division of Human Genetics, Graduate School of Public Health, University of Pittsburgh.
Chakravarti
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D003434:Crossing Over, Genetic; D005799:Genes, Dominant; D008040:Genetic Linkage; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype; D014849:Waardenburg Syndrome / Q000150:complications / Q000235:genetics*